Varaico: Literature-Extracted Genetic Variants

Gene:STXBP2
Variant:p.R529P
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STXBP2

NM_006949.4:p.R529P

Associated Papers

Assessing the digenic model in rare disorders using population sequencing data.

Moreno-Ruiz N et al.

European Journal of Human Genetics : Ejhg, 2022

Progressive multifocal leukoencephalopathy genetic risk variants for pharmacovigilance of immunosuppressant therapies.

Hatchwell E et al.

Frontiers in Neurology, 2022

36588876 (PubMed )
Supplement: Data_Sheet_1.pdf

Digenic Inheritance: Evidence and Gaps in Hemophagocytic Lymphohistiocytosis.

Steen EA et al.

Frontiers in Immunology, 2021

A comprehensive bioinformatic analysis of 126 patients with an inherited platelet disorder to identify both sequence and copy number genetic variants.

Almazni I et al.

Human Mutation, 2020

Germline Genetic Risk Variants for Progressive Multifocal Leukoencephalopathy.

Eis PS et al.

Frontiers in Neurology, 2020

32256442 (PubMed )
Supplement: Data_Sheet_2.pdf
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."